LRBA deficiency

Información en español Title

Other Names:

Combined immunodeficiency due to LRBA deficiency; CID due to LRBA deficiency; Common variable immunodeficiency-8 (CVID8) with autoimmunity; Combined immunodeficiency due to LRBA deficiency; CID due to LRBA deficiency; Common variable immunodeficiency-8 (CVID8) with autoimmunity; LATAIE disease; LRBA deficiency with Autoantibodies, regulatory T cell defects, Autoimmune Infiltration, and Enteropathy See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Immune System Diseases See More

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 445018

Definition

A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.

Visit the Orphanet disease page for more resources.

Last updated: 3/1/2019

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
5%-29% of people have these symptoms
Neutropenia	Low blood neutrophil count Low neutrophil count [ more ]	0001875
Pancytopenia	Low blood cell count	0001876
Percent of people who have these symptoms is not available through HPO
Arthritis	Joint inflammation	0001369
Asthma		0002099
Autoimmune hemolytic anemia		0001890
Autosomal recessive inheritance		0000007
Bronchiectasis	Permanent enlargement of the airways of the lungs	0002110
Chronic diarrhea		0002028
Chronic lung disease		0006528
Clubbing of fingers	Clubbed fingers Clubbing (hands) Finger clubbing [ more ]	0100759
Colitis		0002583
Conjunctivitis	Pink eye	0000509
Decreased circulating IgA level		0002720
Decreased circulating total IgM		0002850
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Gastritis	Stomach inflammation	0005263
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Hypothyroidism	Underactive thyroid	0000821
Immunodeficiency	Decreased immune function	0002721
Lymphadenopathy	Swollen lymph nodes	0002716
Pneumonia		0002090
Progressive	Worsens with time	0003676
Recurrent otitis media	Recurrent middle ear infection	0000403
Recurrent sinusitis		0011108
Thrombocytopenia	Low platelet count	0001873

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Last updated: 7/1/2020

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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